Linked Data
ClinVar Variation Id:
516834
ClinVar RCV Id:
RCV000613190
RCV000643038
RCV001133593
RCV001133592
RCV001133590
RCV001133591
RCV001135078
RCV001719124
RCV002334014
dbSNP Id:
rs72648203
ExAC:
2:179432946 A / G
gnomAD v2:
2-179432946-A-G
gnomAD v3:
2-178568219-A-G
gnomAD v4:
2-178568219-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568219A>G , CM000664.2:g.178568219A>G | GRCh38 |
| NC_000002.11:g.179432946A>G , CM000664.1:g.179432946A>G | GRCh37 |
| NC_000002.10:g.179141192A>G | NCBI36 |
| NG_011618.3:g.267584T>C , LRG_391:g.267584T>C | |
| NG_051363.1:g.50393A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.70209T>C (TTN) | ENSP00000343764.6:p.Tyr23403= | |
| ENST00000342175.11:c.51294T>C (TTN) | ENSP00000340554.6:p.Tyr17098= | |
| ENST00000359218.10:c.51093T>C (TTN) | ENSP00000352154.5:p.Tyr17031= | |
| ENST00000342175.10:c.51294T>C (TTN) | ENSP00000340554.6:p.Tyr17098= | |
| ENST00000342992.10:c.70209T>C (TTN) | ENSP00000343764.6:p.Tyr23403= | |
| ENST00000359218.9:c.51093T>C (TTN) | ENSP00000352154.5:p.Tyr17031= | |
| ENST00000460472.6:c.50718T>C (TTN) | ENSP00000434586.1:p.Tyr16906= | |
| ENST00000589042.5:c.77913T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr25971= | |
| ENST00000591111.5:c.72990T>C (TTN) | ENSP00000465570.1:p.Tyr24330= | |
| ENST00000615779.4:c.72990T>C (TTN) | ENSP00000483597.1:p.Tyr24330= | |
| NM_001256850.1:c.72990T>C (TTN) | NP_001243779.1:p.Tyr24330= | |
| NM_001267550.2:c.77913T>C (TTN) MANE Select | NP_001254479.2:p.Tyr25971= | |
| NM_003319.4:c.50718T>C (TTN) | NP_003310.4:p.Tyr16906= | |
| NM_133378.4:c.70209T>C (TTN) | NP_596869.4:p.Tyr23403= | |
| NM_133432.3:c.51093T>C (TTN) | NP_597676.3:p.Tyr17031= | |
| NM_133437.4:c.51294T>C (TTN) | NP_597681.4:p.Tyr17098= | |
| NR_038271.1:n.447-3081A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-14353A>G (TTN-AS1) | ||
| XM_011511729.1:c.77010T>C (TTN) | XP_011510031.1:p.Tyr25670= | |
| XM_011511730.1:c.50904T>C (TTN) | XP_011510032.1:p.Tyr16968= | |
| XM_011511731.1:c.50763T>C (TTN) | XP_011510033.1:p.Tyr16921= | |
| XM_017004819.1:c.76806T>C (TTN) | XP_016860308.1:p.Tyr25602= | |
| XM_017004820.1:c.72204T>C (TTN) | XP_016860309.1:p.Tyr24068= | |
| XM_017004821.1:c.72201T>C (TTN) | XP_016860310.1:p.Tyr24067= | |
| XM_017004822.1:c.69243T>C (TTN) | XP_016860311.1:p.Tyr23081= | |
| XM_017004823.1:c.50859T>C (TTN) | XP_016860312.1:p.Tyr16953= | |
| XM_024453094.1:c.72354T>C (TTN) | XP_024308862.1:p.Tyr24118= | |
| XM_024453095.1:c.72351T>C (TTN) | XP_024308863.1:p.Tyr24117= | |
| XM_024453096.1:c.71784T>C (TTN) | XP_024308864.1:p.Tyr23928= | |
| XM_024453097.1:c.69126T>C (TTN) | XP_024308865.1:p.Tyr23042= | |
| XM_024453098.1:c.69045T>C (TTN) | XP_024308866.1:p.Tyr23015= | |
| XM_024453099.1:c.50808T>C (TTN) | XP_024308867.1:p.Tyr16936= | |
| XM_024453100.1:c.40662T>C (TTN) | XP_024308868.1:p.Tyr13554= |